Product Details

SNP ID

rs11414

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:3138124 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTGTGCTCTTCCCAGTGCCGAGGTA[C/T]CTGAGAGGAAGGCAGGCGTGGTCAG

Phenotype

MIM: 171840

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PFKP PubMed Links

Gene Details

Gene

PFKP

Gene Name

phosphofructokinase, platelet

There are no transcripts associated with this gene.

Gene

PITRM1

Gene Name

pitrilysin metallopeptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242307.1	2987	Silent Mutation			NP_001229236.1
NM_001242309.1	2987	Silent Mutation			NP_001229238.1
NM_014889.3	2987	Silent Mutation			NP_055704.2
XM_005252345.3	2987	Silent Mutation			XP_005252402.1
XM_017015470.1	2987	Silent Mutation			XP_016870959.1
XM_017015471.1	2987	Silent Mutation			XP_016870960.1
XM_017015472.1	2987	Silent Mutation			XP_016870961.1
XM_017015473.1	2987	Silent Mutation			XP_016870962.1

Gene

PITRM1-AS1

Gene Name

PITRM1 antisense RNA 1

There are no transcripts associated with this gene.

Gene

SNORD142

Gene Name

small nucleolar RNA, C/D box 142

There are no transcripts associated with this gene.

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